Translocations and Other Genetic Anomalies in Sarcomas



Translocations and Other Genetic Anomalies in Sarcomas


Cyril Fisher, MD, DSc, FRCPath














































































































































































































































Diagnostic Molecular and Cytogenetic Findings in Sarcomas


Histologic Type


Translocation or Rearrangement


Fusion Gene or Other Feature


Alveolar soft part sarcoma


t(X;17)(p11;q25)


ASPL-TFE3


Angiomatoid fibrous histiocytoma


t(12;22)(q13;q12)


EWSR1-ATF1




t(12;16)(q13;p11)


FUS-ATF1




t (2;22)(q33;q12)


EWSR1-CREB1


Clear cell sarcoma of soft parts


t(12;22)(q13;q12)


EWSR1-ATF1


Clear cell sarcoma (gastrointestinal)


t(2;22)(q33;q12)


EWSR1-CREB1


Dermatofibrosarcoma protuberans and variants


t(17;22)(q21;q13)


COL1A1-PDGFB




Ring form of chromosomes 17 and 22



Desmoplastic small round cell tumor


t(11;22)(p13;q12)


EWSR1-WT1




t(21;22)(q22;q12)


EWSR1-ERG


Endometrial stroma sarcoma


t(7;17)(p15:q21)


JAZF1-JJAZ1




t(6;7)(p21;p22)


JAZF1-PHF1




t(10:17)(q22;p13)



Epithelioid hemangioendothelioma


t(1;3)(p36.3;q25)





t(10;14)(p13;q24)


Gene for VEGF-related protein at 14q24


Epithelioid sarcoma


Abnormalities of 22q


INI1 inactivation


Ewing sarcoma/primitive neuroectodermal tumor


t(11;22)(q24;q12)


EWSR1-FLI1




t(21;22)(q12;q12)


EWSR1-ERG




t(2;22)(q33;q12)


EWSR1-FEV




t(7;22)(p22;q12)


EWSR1-ETV1




t(17;22)(q12;q12)


EWSR1-E1AF




inv(22)(q12;q12)


EWSR1-ZSG


Extraskeletal myxoid chondrosarcoma


t(9;22)(q22;q12)


EWSR1-NR4A3




t(9;17)(q22;q11)


TAF1168-NR4A3




t(9;15)(q22;q21)


TCF12-NR4A3


Fibrosarcoma, infantile


t(12;15)(p13;q26)


ETV6-NTRK3




Trisomies 8, 11, 17, and 20



Gastrointestinal stromal tumor



KIT, PDGFRA mutations


Inflammatory myofibroblastic tumor


2p23 rearrangement


ALK fusions with various genes


Leiomyosarcoma


Deletion of 1p



Liposarcoma





Well-differentiated


Ring form of chromosome 12


12q13-15 amplicon including MDM2, CDK4, HMGA2



Dedifferentiated


Ring forms and complex changes


12q14 amplicon including MDM2, CDK4, HMGA2, ASK1, and JUN amplification



Spindle cell



RB1 deletion



Myxoid/round cell


t(12;16)(q13;p11), t(12;22)(q13;q12)


FUS-DDIT3




t(12;22)(q13;q12)


EWSR1-DDIT3



Pleomorphic


Complex changes, multiple karyotypes



Low-grade fibromyxoid sarcoma


t(7;16)(q33;p11)


FUS-CREB3L2





FUS-CREB3L1 (in a small number of cases)


Malignant rhabdoid tumor


Deletion of 22q


INI1 inactivation


Malignant peripheral nerve sheath tumor


Complex changes


NF1 inactivation, INK4A deletion


Myxofibrosarcoma


Ring form of chromosome 12, complex changes



Myoxinflammatory fibroblastic sarcoma


t(1;10)(p22;q24), t(2;6)(q31;p21.3)



Rhabdomyosarcoma





Embryonal


Trisomies 2q, 8, and 20


Loss of heterozygosity at 11p15



Alveolar


t(1;13)(p36;q14)


PAX7-FKHR




t(2;13)(q35;q14)


PAX3-FKHR


Synovial sarcoma


t(X;18)(p11;q11)


SS18-SSX1, SS18-SSX2





SS18-SSX4 (very rarely)




t(X;20)(p11;q13)


SS18L1-SSX1



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Jul 9, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Translocations and Other Genetic Anomalies in Sarcomas
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